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PMID: 6931098 Published · ppublish English Case Reports Journal Article

A new case of Y to X translocation in a female.

Human genetics ·Vol. 54 ·No. 3 ·1980-00-00 ·Pages 303-7

Hecht T, Cooke HJ, Cerrillo M, Meer B, Reck G, Hameister H

Abstract

An unbalanced Y to X translocation due to a de novo mutation is described in a female with some clinical features of the Turner syndrome. Her karyotype is defined as 46,X,t(X;Y)(Xp11.2;Yq11). Hae III restriction analysis revealed an amount of male-specific DNA sequences in the normal male range. DNA replication analysis showed that in all cells studied the translocation X chromosome was late replicating and that the X segment of the translocation chromosome was later replicating while replication of the Y segment varied. A serologic test indicated a reduced titer of H-Y antigen, and biochemical studies for the enzyme steroid sulfatase revealed activity in the male range.

MeSH Terms
Adult Blood Group Antigens/genetics Chromosome Banding DNA Replication Female H-Y Antigen/genetics Humans Karyotyping Sex Chromosome Aberrations/genetics Steryl-Sulfatase Sulfatases/genetics Translocation, Genetic
Chemicals
Blood Group Antigens H-Y Antigen Sulfatases Steryl-Sulfatase
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Hecht T
Cooke H J
Cerrillo M
Meer B
Reck G
Hameister H
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23 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00291573
Published
1980-00-00
Pages
303-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00291573 View journal details
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